rins policísticos
TRANSCRIPT
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SESSÃO DE CASOS CLÍNICOS
Fabrícia Gonçalves – R1
Orientadoras: Dra. Beatriz e Dra. Adriana
Abril, 2009
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Anamnese
• M.A.N, masculino, 44 anos, branco.
• “Eliminou cálculo renal aos 11 anos, episódios esporádicos de desconforto lombar”
• Irmão submetido a TX renal.
• Mãe falecida em IRC dialítica.
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RIM DIREITO
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RIM ESQUERDO
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RIM DIREITO / RIM ESQUERDO
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RIM DIR-TERÇO INFERIOR
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RIM ESQUERDO
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Hipótese diagnóstica
DOENÇA RENAL POLICÍSTICA
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E DAÍ??
EXAME
FÍGADO
BAÇO
PÂNCREAS
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DOENÇA RENAL POLICÍSTICA
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Doença renal policística
Epidemiologia e conceitos gerais
• Uma das doenças renais mais comuns
• Caráter hereditário obrigatório
• Segundo Ministério da saúde, a cada ano:- 18 mil hemodiálise ou diálise peritoneal. - 2,7 mil tx. *EUA, 5-24% pcts em diálise são portadores de
DRP
gene PKD1 (85%) e PKD2
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DOENÇA RENAL POLICÍSTICA
• DO ADULTO (autossômica dominante)- Penetrância de 100% (70-80 anos)- Função renal conservada por anos variáveis- IRC e HAS inícios variáveis.- Associações a cistos em outros órgãos
• DA INFÂNCIA (autossômica recessiva)- Rara- Quanto mais cedo se manifesta, mais grave.- Infantil e juvenil estão associadas a fibrose hepática
congênita.
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Critérios de Bear(Doença Renal Policística Autossômica Recessiva)
• < 30 anos + história familiar: 2 cistos (uni ou bilaterais)
• 30 a 59 anos: 2 cistos em ambos os rins
• > 60 anos: 4 cistos
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Achados de imagem (DRP da infância)
- Perinatal e neonatal óbito nos primeiros dias de vida.* Rins muito aumentados, com pequenos e numerosos cistos
(1-2mm) localizados na cortical e medular, hiperecogenicidade.
- Infantil e juvenil, associada a fibrose hepática côngenita.* Fibrose peri-portal branda* Proliferação de ductos biliares bem diferenciados* Hipertensão portal* Esplenomegalia
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Figure 7b.. Bilateral autosomal recessive polycystic renal disease in an 11-hour-old term male newborn. (a) US scan shows bilaterally enlarged and echogenic kidneys. (b) High-resolution US scan, obtained with a linear-array transducer, shows tubular cortical and medullary cysts, with a radial array of cysts in the medullary area (arrows). (c) US scan shows a subcapsular area spared of cysts (arrows).
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Fig. 2B. —Two patients with autosomal recessive polycystic kidney disease and macroscopic cysts. In 10-year-old boy, unusual pattern of peripheral macroscopic cysts (arrows) is exhibited
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Figure 8a. Autosomal recessive polycystic renal disease in a 3-week-old boy, from whom the enlarged kidneys were removed to improve respiratory management. (a) Photograph shows gross specimen, approximately 17 cm long. (b) Photograph allows comparison of the size of the gross specimen with the affected neonate, immediately after surgery.
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Figure 8b. Autosomal recessive polycystic renal disease in a 3-week-old boy, from whom the enlarged kidneys were removed to improve respiratory management. (a) Photograph shows gross specimen, approximately 17 cm long. (b) Photograph allows comparison of the size of the gross specimen with the affected neonate, immediately after surgery. (Case courtesy of Paul Austin, MD, Washington University, St Louis, Mo.)
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Achados de imagem (DRP do adulto)
• Massas císticas isoladas em meio ao rim normal.
• Rins aumentados de dimensões
• Contornos bosselados
• Aumento no número de cistos (dimensões variáveis)
• Cistos grandes podem comprimir os cálices e a pelve.
• Cistos com debris (hemorragia ou infecção)
• Calcificações intracísticas.
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ASSOCIAÇÕES
• Cistos hepáticos (Até 40%) *Síndrome de Caroli
• Cistos pancreáticos *Sínd. de Von Hippel-Lindau (hemangioblastomas (SNC) e retina, carcinoma renal,
cistos renais, feocromocitoma, tumores císticos e sólidos de pâncreas, cistoadenoma de epidídimo e tumores de saco endolinfático)
• Cistos esplênicos
• Aneurismas intracranianos (10-36%)
• Alterações Aórticas (dilatações, aneurismas, dissecções de aorta torácica) são mais frequentes.
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(a) The kidneys are enlarged with distorted calices (arrows) that are compressed by multiple intrarenal cysts. An IVU image could not be obtained because the patient had renal failure. (b) Contemporary US image obtained from the extended longitudinal view of the right kidney shows autosomal dominant polycystic renal disease
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(c) Transverse computed tomographic (CT) images show the cysts (C).
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Figure 3d. PLD in a 47-year-old woman with massive abdominal distention due to hepatomegaly. (a, b) Frontal (a) and lateral (b) CT scanograms demonstrate a markedly protuberant abdomen. (c) Unenhanced CT scan demonstrates marked displacement of the stomach posteriorly (arrow). (d) Intravenous contrast material–enhanced CT scan obtained at the same level as c clearly depicts the right hepatic artery (arrow) replaced to the superior mesenteric artery. The patient suffered from early satiety and progressive immobility and required liver transplantation despite essentially normal liver function tests. The explanted liver weighed 10,190 g and measured 42 x 40 x 20 cm. Of note, the patient had a normal creatinine level. Three of her siblings had already undergone kidney transplantation for ADPKD, but she was the only sibling with PLD
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Figure 4a. Polycystic liver disease. (a) Arterial-phase gadolinium-enhanced T1-weighted MR image, obtained in a 23-year-old woman with autosomal dominant polycystic kidney and liver disease, shows renal cysts (arrows) and the typical MR imaging appearance of hepatic cysts: homogeneity, well-defined borders, and no enhancement of wall or content. (b) Coronal projection MR cholangiogram obtained in a 67-year-old patient shows numerous hyperintense cysts of varying size scattered throughout the liver. Note that the
cystic lesions do not communicate with the biliary tree.
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Figure 3. Congenital hepatic fibrosis and Caroli syndrome in a 24-year-old man. Coronal T2-weighted MR image shows splenomegaly (S), multiple renal cysts (arrows), and saccular dilatation of the intrahepatic biliary tree (arrowhead), findings that are typically seen in association with Caroli disease.
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Figure 5. Multiple unilocular cysts in a patient with Von Hippel–Lindau disease. Contrast-enhanced CT scan shows multiple unilocular cysts (arrows) scattered throughout an otherwise
healthy-looking pancreas.
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MANIFESTAÇÕES
• Dor lombar• Dor mais aguda pode indicar: infecção,
hemorragia intracística ou obstrução por coágulos ou cálculos.
• Hematúria• Nictúria• Morte prematura, por associação a aneurismas
cerebrais.
Doença renal policística
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Estudo genético
1) Dx pré-natal – famílias portadoras.
2) Confirmação dx em filhos de pais que já possuem filhos atingidos pelo ADPKD;
3) Parentes e candidatos (potencias doadores) – excluir a possibilidade de mutação nos PKD.
Doença renal policística
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x
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